Angela R Bradbury1, Linda Patrick-Miller2, Jessica Long3, Jacquelyn Powers3, Jill Stopfer3, Andrea Forman4, Christina Rybak4, Kristin Mattie5, Amanda Brandt3, Rachelle Chambers6, Wendy K Chung7, Jane Churpek6, Mary B Daly4, Laura Digiovanni3, Dana Farengo-Clark5, Dominique Fetzer3, Pamela Ganschow8, Generosa Grana5, Cassandra Gulden6, Michael Hall4, Lynne Kohler3, Kara Maxwell3, Shana Merrill9, Susan Montgomery4, Rebecca Mueller3, Sarah Nielsen6, Olufunmilayo Olopade2, Kimberly Rainey4, Christina Seelaus8, Katherine L Nathanson10, Susan M Domchek11. 1. 1] Division of Hematology-Oncology, Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA [2] Department of Medical Ethics and Health Policy, University of Pennsylvania, Philadelphia, Pennsylvania, USA [3] Abramson Cancer Center, University of Pennsylvania, Philadelphia, Pennsylvania, USA. 2. 1] Division of Hematology-Oncology, Department of Medicine, The University of Chicago, Chicago, Illinois, USA [2] Center for Clinical Cancer Genetics and Global Health, The University of Chicago, Chicago, Illinois, USA. 3. Division of Hematology-Oncology, Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA. 4. Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, Pennsylvania, USA. 5. Department of Hematology/Oncology, MD Anderson Cancer Center at Cooper, Camden, New Jersey, USA. 6. Division of Hematology-Oncology, Department of Medicine, The University of Chicago, Chicago, Illinois, USA. 7. 1] Department of Pediatrics, Columbia University Medical Center, New York, New York, USA [2] Department of Medicine, Columbia University Medical Center, New York, New York, USA. 8. Department of Internal Medicine, John H. Stroger, Jr. Hospital, Chicago, Illinois, USA. 9. Department of Translational Medicine and Human Genetics, University of Pennsylvania, Philadelphia, Pennsylvania, USA. 10. 1] Abramson Cancer Center, University of Pennsylvania, Philadelphia, Pennsylvania, USA [2] Department of Translational Medicine and Human Genetics, University of Pennsylvania, Philadelphia, Pennsylvania, USA. 11. 1] Division of Hematology-Oncology, Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA [2] Abramson Cancer Center, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Abstract
PURPOSE: Multiplex genetic testing, including both moderate- and high-penetrance genes for cancer susceptibility, is associated with greater uncertainty than traditional testing, presenting challenges to informed consent and genetic counseling. We sought to develop a new model for informed consent and genetic counseling for four ongoing studies. METHODS: Drawing from professional guidelines, literature, conceptual frameworks, and clinical experience, a multidisciplinary group developed a tiered-binned genetic counseling approach proposed to facilitate informed consent and improve outcomes of cancer susceptibility multiplex testing. RESULTS: In this model, tier 1 "indispensable" information is presented to all patients. More specific tier 2 information is provided to support variable informational needs among diverse patient populations. Clinically relevant information is "binned" into groups to minimize information overload, support informed decision making, and facilitate adaptive responses to testing. Seven essential elements of informed consent are provided to address the unique limitations, risks, and uncertainties of multiplex testing. CONCLUSION: A tiered-binned model for informed consent and genetic counseling has the potential to address the challenges of multiplex testing for cancer susceptibility and to support informed decision making and adaptive responses to testing. Future prospective studies including patient-reported outcomes are needed to inform how to best incorporate multiplex testing for cancer susceptibility into clinical practice.Genet Med 17 6, 485-492.
PURPOSE: Multiplex genetic testing, including both moderate- and high-penetrance genes for cancer susceptibility, is associated with greater uncertainty than traditional testing, presenting challenges to informed consent and genetic counseling. We sought to develop a new model for informed consent and genetic counseling for four ongoing studies. METHODS: Drawing from professional guidelines, literature, conceptual frameworks, and clinical experience, a multidisciplinary group developed a tiered-binned genetic counseling approach proposed to facilitate informed consent and improve outcomes of cancer susceptibility multiplex testing. RESULTS: In this model, tier 1 "indispensable" information is presented to all patients. More specific tier 2 information is provided to support variable informational needs among diverse patient populations. Clinically relevant information is "binned" into groups to minimize information overload, support informed decision making, and facilitate adaptive responses to testing. Seven essential elements of informed consent are provided to address the unique limitations, risks, and uncertainties of multiplex testing. CONCLUSION: A tiered-binned model for informed consent and genetic counseling has the potential to address the challenges of multiplex testing for cancer susceptibility and to support informed decision making and adaptive responses to testing. Future prospective studies including patient-reported outcomes are needed to inform how to best incorporate multiplex testing for cancer susceptibility into clinical practice.Genet Med 17 6, 485-492.
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